Mutagenetix > Incidental Mutation

Incidental Mutation 'R7371:Urb2'

572093

Institutional Source

Beutler Lab

Gene Symbol

Urb2

Ensembl Gene

ENSMUSG00000031976

Gene Name

URB2 ribosome biogenesis 2 homolog (S. cerevisiae)

Synonyms

MMRRC Submission

045454-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R7371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124748247-124775244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124755008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 238 (D238E)

Ref Sequence

ENSEMBL: ENSMUSP00000034457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034457] [ENSMUST00000127664] [ENSMUST00000173168]

AlphaFold

E9Q7L1

Predicted Effect

probably benign
Transcript: ENSMUST00000034457
AA Change: D238E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: D238E

Domain	Start	End	E-Value	Type
low complexity region	489	503	N/A	INTRINSIC
low complexity region	541	546	N/A	INTRINSIC
low complexity region	576	590	N/A	INTRINSIC
low complexity region	887	900	N/A	INTRINSIC
low complexity region	1073	1092	N/A	INTRINSIC
low complexity region	1172	1188	N/A	INTRINSIC
low complexity region	1273	1279	N/A	INTRINSIC
Pfam:Urb2	1319	1515	2.7e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173168
AA Change: D238E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: D238E

Domain	Start	End	E-Value	Type
low complexity region	489	503	N/A	INTRINSIC
low complexity region	541	546	N/A	INTRINSIC
low complexity region	576	590	N/A	INTRINSIC
low complexity region	887	900	N/A	INTRINSIC
low complexity region	1073	1092	N/A	INTRINSIC
low complexity region	1172	1188	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (88/90)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	C	12: 81,607,064 (GRCm39)	S233A	probably damaging	Het
Adcy8	T	A	15: 64,571,067 (GRCm39)	H1222L	probably benign	Het
Aftph	T	C	11: 20,676,836 (GRCm39)	T258A	probably benign	Het
Ano3	A	C	2: 110,715,194 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,303,013 (GRCm39)	D1148G	probably damaging	Het
Bcl11b	A	T	12: 107,955,750 (GRCm39)	I133N	probably damaging	Het
Borcs7	T	A	19: 46,688,057 (GRCm39)	D67E	probably damaging	Het
Cacna2d4	T	A	6: 119,285,670 (GRCm39)	I774N	probably benign	Het
Catsperd	A	T	17: 56,957,801 (GRCm39)	Y236F	probably benign	Het
Cblc	T	C	7: 19,526,828 (GRCm39)	S135G	probably benign	Het
Ccdc168	C	A	1: 44,100,537 (GRCm39)	R187L	probably benign	Het
Ccdc178	A	G	18: 22,263,195 (GRCm39)	V138A	probably benign	Het
Cd300ld	C	T	11: 114,878,186 (GRCm39)	G109R	probably damaging	Het
Cdh3	T	A	8: 107,279,109 (GRCm39)	N690K	probably damaging	Het
Ceacam1	T	A	7: 25,174,145 (GRCm39)	Y170F	possibly damaging	Het
Ceacam9	A	C	7: 16,457,652 (GRCm39)	H55P	possibly damaging	Het
Celsr1	C	T	15: 85,914,875 (GRCm39)	V1033I	possibly damaging	Het
Cep97	T	C	16: 55,725,683 (GRCm39)	S807G	probably benign	Het
Ces1b	A	G	8: 93,783,982 (GRCm39)		probably null	Het
Chn1	T	C	2: 73,510,234 (GRCm39)	T92A	probably damaging	Het
Cimap1b	C	A	15: 89,263,365 (GRCm39)	W6L	probably damaging	Het
Cngb3	A	C	4: 19,425,575 (GRCm39)	Y461S	possibly damaging	Het
Col24a1	A	G	3: 145,049,459 (GRCm39)	N629S	probably benign	Het
Cpd	T	C	11: 76,737,437 (GRCm39)	D119G	probably benign	Het
Cpsf1	T	C	15: 76,484,775 (GRCm39)	D594G	probably damaging	Het
Cpsf7	C	T	19: 10,509,203 (GRCm39)	A38V	probably benign	Het
Cry1	A	T	10: 84,983,783 (GRCm39)	H224Q	probably benign	Het
Ctr9	T	A	7: 110,633,014 (GRCm39)	D87E	probably damaging	Het
Cyp2u1	T	A	3: 131,087,144 (GRCm39)	N479I	probably benign	Het
Dip2c	A	G	13: 9,642,785 (GRCm39)	N672D	probably benign	Het
Dnah14	T	C	1: 181,454,450 (GRCm39)	V820A	probably benign	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fgb	T	C	3: 82,953,359 (GRCm39)	Y137C	probably damaging	Het
Fkbp15	A	G	4: 62,239,293 (GRCm39)	V604A	possibly damaging	Het
Flii	A	T	11: 60,609,090 (GRCm39)	N682K	probably benign	Het
Fmo3	A	G	1: 162,781,796 (GRCm39)	L519P	possibly damaging	Het
Gapvd1	T	A	2: 34,607,385 (GRCm39)	M538L	probably benign	Het
Gbp11	A	G	5: 105,489,971 (GRCm39)	V69A	probably benign	Het
Ggn	T	A	7: 28,871,605 (GRCm39)	D364E	probably benign	Het
Gm10377	G	A	14: 42,614,853 (GRCm39)	P171S	probably benign	Het
Gramd4	C	T	15: 86,019,607 (GRCm39)	A625V	probably benign	Het
Il2ra	T	A	2: 11,647,831 (GRCm39)	M7K	probably benign	Het
Iqgap2	A	T	13: 95,836,846 (GRCm39)		probably null	Het
Itgb4	T	C	11: 115,888,906 (GRCm39)	V1083A	probably benign	Het
Kcnma1	G	A	14: 23,544,638 (GRCm39)	A573V	possibly damaging	Het
Kirrel1	T	C	3: 86,995,729 (GRCm39)	T402A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt4	T	A	15: 101,828,823 (GRCm39)	Q347L	probably damaging	Het
Map3k21	T	A	8: 126,661,804 (GRCm39)	I467N	probably damaging	Het
Mastl	A	T	2: 23,030,585 (GRCm39)	S195T	probably damaging	Het
Mis18bp1	G	T	12: 65,205,368 (GRCm39)	T268K	probably benign	Het
Mmp17	G	A	5: 129,682,836 (GRCm39)	G492S	probably null	Het
Myc	T	A	15: 61,860,031 (GRCm39)	S236T	probably damaging	Het
Nlrp5	A	T	7: 23,117,848 (GRCm39)	E524V	probably damaging	Het
Nopchap1	T	C	10: 83,201,680 (GRCm39)	V151A	probably benign	Het
Npr3	T	A	15: 11,845,376 (GRCm39)		probably null	Het
Oog4	T	C	4: 143,165,346 (GRCm39)	N267S	possibly damaging	Het
Or2a12	T	A	6: 42,904,469 (GRCm39)	Y101*	probably null	Het
Or4l15	A	T	14: 50,198,563 (GRCm39)		probably null	Het
Or56a5	A	G	7: 104,793,086 (GRCm39)	I138T	possibly damaging	Het
Pde4dip	T	C	3: 97,664,587 (GRCm39)	E425G	probably benign	Het
Piwil4	A	C	9: 14,638,729 (GRCm39)	N312K	probably benign	Het
Pmepa1	A	G	2: 173,076,212 (GRCm39)	M47T	possibly damaging	Het
Potefam1	A	T	2: 111,023,826 (GRCm39)	S475T	unknown	Het
Prkcg	G	A	7: 3,368,069 (GRCm39)	G372D	probably benign	Het
Prune2	A	G	19: 17,096,734 (GRCm39)	H746R	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Rab3gap2	C	G	1: 184,983,265 (GRCm39)	A468G	probably damaging	Het
Ralb	A	G	1: 119,400,129 (GRCm39)	L123P		Het
Ralgapa2	G	A	2: 146,189,046 (GRCm39)	T1288I	probably benign	Het
Samd4b	C	A	7: 28,122,926 (GRCm39)	C44F	probably benign	Het
Satb1	C	A	17: 52,090,008 (GRCm39)	E280*	probably null	Het
Sec1	T	C	7: 45,328,034 (GRCm39)	T338A	probably damaging	Het
Sec16a	T	C	2: 26,331,734 (GRCm39)	T94A	probably benign	Het
Serpina1f	G	A	12: 103,656,086 (GRCm39)	R381W	probably damaging	Het
Sfswap	A	T	5: 129,620,305 (GRCm39)	T525S	probably benign	Het
Skor1	T	C	9: 63,054,169 (GRCm39)		probably null	Het
Spc24	A	G	9: 21,668,664 (GRCm39)	L111P	probably damaging	Het
St8sia2	T	C	7: 73,616,675 (GRCm39)	D121G	probably damaging	Het
Tanc2	A	G	11: 105,689,422 (GRCm39)	T195A	probably benign	Het
Tbc1d9	T	A	8: 83,997,890 (GRCm39)	I1149N	probably damaging	Het
Tph2	A	T	10: 114,987,016 (GRCm39)	L258Q	probably damaging	Het
Trpm3	A	T	19: 22,879,557 (GRCm39)	M781L	probably benign	Het
Ubap2	G	T	4: 41,195,779 (GRCm39)	P1005T	probably benign	Het
Upf2	A	G	2: 5,965,851 (GRCm39)	E157G	unknown	Het
Vipr1	T	C	9: 121,497,621 (GRCm39)	S380P	probably damaging	Het
Zc3h18	T	A	8: 123,139,760 (GRCm39)	S734T	unknown	Het
Zmym6	T	A	4: 126,998,106 (GRCm39)	Y381N	probably damaging	Het
Zscan4e	T	C	7: 11,041,251 (GRCm39)	K207R	probably benign	Het

Other mutations in Urb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Urb2	APN	8	124,755,433 (GRCm39)	missense	probably damaging	1.00
IGL00705:Urb2	APN	8	124,763,376 (GRCm39)	missense	probably benign	0.00
IGL02090:Urb2	APN	8	124,754,976 (GRCm39)	missense	probably benign	0.28
IGL02707:Urb2	APN	8	124,757,425 (GRCm39)	missense	probably benign	0.04
IGL03103:Urb2	APN	8	124,756,491 (GRCm39)	missense	probably benign	0.17
IGL03402:Urb2	APN	8	124,756,588 (GRCm39)	missense	possibly damaging	0.92
R0037:Urb2	UTSW	8	124,773,934 (GRCm39)	missense	probably damaging	1.00
R0113:Urb2	UTSW	8	124,757,665 (GRCm39)	missense	probably benign	0.00
R0883:Urb2	UTSW	8	124,757,709 (GRCm39)	nonsense	probably null
R1015:Urb2	UTSW	8	124,756,173 (GRCm39)	missense	probably damaging	1.00
R1265:Urb2	UTSW	8	124,751,892 (GRCm39)	missense	probably damaging	1.00
R1463:Urb2	UTSW	8	124,757,647 (GRCm39)	missense	probably benign	0.04
R1497:Urb2	UTSW	8	124,754,816 (GRCm39)	missense	probably damaging	1.00
R1556:Urb2	UTSW	8	124,757,356 (GRCm39)	missense	probably damaging	1.00
R1622:Urb2	UTSW	8	124,756,363 (GRCm39)	missense	probably benign
R1914:Urb2	UTSW	8	124,756,537 (GRCm39)	missense	possibly damaging	0.81
R1915:Urb2	UTSW	8	124,756,537 (GRCm39)	missense	possibly damaging	0.81
R2172:Urb2	UTSW	8	124,757,841 (GRCm39)	missense	probably damaging	1.00
R2240:Urb2	UTSW	8	124,756,878 (GRCm39)	missense	probably benign	0.02
R2424:Urb2	UTSW	8	124,757,165 (GRCm39)	missense	probably benign	0.02
R4085:Urb2	UTSW	8	124,757,680 (GRCm39)	missense	probably benign	0.02
R4119:Urb2	UTSW	8	124,773,979 (GRCm39)	missense	probably benign	0.00
R4732:Urb2	UTSW	8	124,755,636 (GRCm39)	missense	probably damaging	1.00
R4733:Urb2	UTSW	8	124,755,636 (GRCm39)	missense	probably damaging	1.00
R4865:Urb2	UTSW	8	124,756,374 (GRCm39)	nonsense	probably null
R5005:Urb2	UTSW	8	124,757,920 (GRCm39)	missense	probably damaging	0.97
R5381:Urb2	UTSW	8	124,756,651 (GRCm39)	missense	probably benign	0.02
R5704:Urb2	UTSW	8	124,764,921 (GRCm39)	missense	probably damaging	0.97
R5891:Urb2	UTSW	8	124,757,595 (GRCm39)	missense	possibly damaging	0.64
R5958:Urb2	UTSW	8	124,756,398 (GRCm39)	missense	probably benign	0.01
R5966:Urb2	UTSW	8	124,754,827 (GRCm39)	missense	probably benign	0.00
R6133:Urb2	UTSW	8	124,755,300 (GRCm39)	nonsense	probably null
R6136:Urb2	UTSW	8	124,756,831 (GRCm39)	missense	probably benign
R6341:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6343:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6344:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6417:Urb2	UTSW	8	124,773,938 (GRCm39)	missense	probably damaging	1.00
R6420:Urb2	UTSW	8	124,773,938 (GRCm39)	missense	probably damaging	1.00
R6585:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6586:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6587:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6588:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R7061:Urb2	UTSW	8	124,755,036 (GRCm39)	missense	probably benign
R7090:Urb2	UTSW	8	124,757,338 (GRCm39)	missense	probably benign
R7467:Urb2	UTSW	8	124,755,250 (GRCm39)	missense	probably benign
R7542:Urb2	UTSW	8	124,755,327 (GRCm39)	missense	probably benign
R7545:Urb2	UTSW	8	124,756,491 (GRCm39)	missense	probably benign	0.00
R7686:Urb2	UTSW	8	124,771,911 (GRCm39)	missense	probably benign	0.01
R8046:Urb2	UTSW	8	124,754,771 (GRCm39)	missense	possibly damaging	0.92
R8101:Urb2	UTSW	8	124,754,779 (GRCm39)	missense	probably benign	0.01
R8404:Urb2	UTSW	8	124,751,942 (GRCm39)	missense	probably damaging	1.00
R8879:Urb2	UTSW	8	124,755,142 (GRCm39)	missense	probably benign	0.27
R9141:Urb2	UTSW	8	124,755,285 (GRCm39)	missense	probably damaging	1.00
R9174:Urb2	UTSW	8	124,767,987 (GRCm39)	missense	possibly damaging	0.75
R9184:Urb2	UTSW	8	124,771,890 (GRCm39)	missense	probably benign	0.10
R9270:Urb2	UTSW	8	124,750,192 (GRCm39)	unclassified	probably benign
R9304:Urb2	UTSW	8	124,757,247 (GRCm39)	missense	probably benign
R9309:Urb2	UTSW	8	124,754,809 (GRCm39)	missense	probably damaging	1.00
R9328:Urb2	UTSW	8	124,774,034 (GRCm39)	missense	probably damaging	1.00
R9415:Urb2	UTSW	8	124,756,613 (GRCm39)	missense	possibly damaging	0.72
R9426:Urb2	UTSW	8	124,755,285 (GRCm39)	missense	probably damaging	1.00
R9429:Urb2	UTSW	8	124,750,226 (GRCm39)	nonsense	probably null
R9741:Urb2	UTSW	8	124,755,751 (GRCm39)	missense	probably damaging	0.99
X0020:Urb2	UTSW	8	124,757,722 (GRCm39)	missense	possibly damaging	0.91
X0027:Urb2	UTSW	8	124,755,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGGTCATTCATCTGGCTC -3'
(R):5'- TGAGCTGGCCACAACCAAAG -3'

Sequencing Primer
(F):5'- GAGGTCATTCATCTGGCTCTTGAC -3'
(R):5'- AGCATGGAGGTCTGATCTGAC -3'

Posted On

2019-09-13